Varaico: Literature-Extracted Genetic Variants

JAK2

5,910 papers

RefSeq Summary

This gene encodes a non-receptor tyrosine kinase that plays a central role in cytokine and growth factor signalling. The primary isoform of this protein has an N-terminal FERM domain that is required ...

Pfam Domains

FERM_F1aa 39–134UCSCFERM F1 ubiquitin-like domain

FERM_F2aa 142–261UCSCFERM F2 acyl-CoA binding protein-like domain

Jak1_Phlaa 299–381UCSCJak1 pleckstrin homology-like domain

SH2_1aa 398–501UCSCSH2 domain

PK_Tyr_Ser-Thraa 545–805UCSCProtein tyrosine and serine/threonine kinase

PK_Tyr_Ser-Thraa 849–1123UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

Janus kinase 2

HGNC Alias Symbol

JTK10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

90 papers

NM_004972.4

p.E543del1

c.1627_1628delGAA

Surrounding Variants

1 paper

NM_004972.4

p.N542K

c.1626T>A

1 paper

NM_004972.4

p.N542K

c.1626T>G

1 paper

NM_004972.4

p.N542S

c.1625A>G

2 papers

NM_004972.4

p.E543K

c.1627G>A

1 paper

NM_004972.4

p.E543Fs

c.1627delinsGAFs

1 paper

NM_004972.4

p.E543Fs

c.1627delinsGAAFs

1 paper

NM_004972.4

p.E543*

c.1627G>T

3 papers

NM_004972.4

p.E543A

c.1628A>C

2 papers

NM_004972.4

p.E543G

c.1628A>G

10 papers

NM_004972.4

p.E543_D544del0

c.1627_1632del6

2 papers

NM_004972.4

p.E543D

c.1629A>C

2 papers

NM_004972.4

p.E543D

c.1629A>T